BSPED2015 e-Posters Diabetes (47 abstracts)
1Alder Hey Childrens Hospital NHS Foundation Trust, Liverpool, UK; 2St Helen and Knowsley NHS Trust, Whiston, UK.
Case report: A 9-year-old girl of mixed ethnic origin presented with symptomatic hypercalcaemia with a 3-month history of weight loss and lethargy. Autoimmune hypothyroidism had been diagnosed 10 months previously. Serum vitamin D concentration (11 nmol/l) was low and cholecalciferol 20 000 units daily for 7 days followed by 800 units daily was commenced. One month later, her symptoms worsened and she had developed anaemia and renal impairment. Hypercalcaemia was noted (Corr Ca 3.7 mmol/l, Phos 1.46 mmol/l, ALP 133 iu/l, Vitamin D 65 nmol/l, PTH 0.1 pmol/l (NR 1.16.9), 1,25 vitamin D3 161 pmol/l (NR 43143), urine Ca: Creat ratio 3.03). Intravenous fluids and one dose of calcitonin normalised the calcium concentration. Bisphosphonates were not used due to renal impairment. Elevated amylase (395 μ/l) and USS abdomen findings suggested pancreatitis. TSH was raised with normal T4 (on 125 μg of Thyroxine), ACTH was undetectable and standard synacthen test was suboptimal (cortisol <50 nmol/l at 0 min and 320 nmol/l at 30 min). Hydrocortisone was commenced. MRI pituitary was normal and her adrenal antibodies were negative. Within few days, she developed diabetes mellitus requiring insulin therapy and GAD antibodies were strongly positive. Further investigations include negative mantoux, normal pelvis ultrasound and HR CT chest. The ACE levels (135 U/l (NR 10-43)) and ESR levels (2635 mm/h) were elevated. Conjunctival biopsy did not reveal granulomas and bone marrow biopsy was normal. A probable diagnosis of sarcoidosis was made based on the constellation of clinical findings and she was treated with steroids and methotrexate. Pancreatitis resolved with conservative management.
Conclusions: Granulomatous diseases like sarcoidosis are rare causes of hypercalcaemia in children. Sarcoidosis causes hypercalcaemia by extra renal 1 alpha-hydroxylation of vitamin D causing high circulating concentrations of 1,25 vitamin D. It can be associated with multiple endocrine problems including hypothalamo-pituitary disease and autoimmune endocrinopathy.